Canonical Allele Identifier: CA16603123

Gene: ALK

Linked Data

• ClinVar Variation Id: 376713
• ClinVar RCV Id: RCV000422585
• dbSNP Id: rs1057520019
• COSMIC: COSM28497
• MyVariant Identifiers: chr2:g.29445228A>C (hg19) ; chr2:g.29222362A>C (hg38)
• PubMed: PMID:18724359

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.29222362A>C , CM000664.2:g.29222362A>C	GRCh38
NC_000002.11:g.29445228A>C , CM000664.1:g.29445228A>C	GRCh37
NC_000002.10:g.29298732A>C	NCBI36
NG_009445.1:g.704205T>G , LRG_488:g.704205T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389048.8:c.3497T>G MANE Select	ENSP00000373700.3:p.Met1166Arg
ENST00000431873.6:c.724T>G
ENST00000638605.1:n.374T>G
ENST00000642122.1:c.293T>G	ENSP00000493203.1:p.Met98Arg
ENST00000389048.7:c.3497T>G	ENSP00000373700.3:p.Met1166Arg
ENST00000431873.5:c.377T>G	ENSP00000414027.2:p.Met126Arg
ENST00000453137.1:c.191T>G	ENSP00000387488.1:p.Met64Arg
ENST00000618119.4:c.2366T>G	ENSP00000482733.1:p.Met789Arg
NM_004304.4:c.3497T>G	NP_004295.2:p.Met1166Arg
NM_001353765.1:c.293T>G	NP_001340694.1:p.Met98Arg
XM_024452778.1:c.650T>G	XP_024308546.1:p.Met217Arg
XM_024452779.1:c.293T>G	XP_024308547.1:p.Met98Arg
NM_004304.5:c.3497T>G MANE Select	NP_004295.2:p.Met1166Arg
NM_001353765.2:c.293T>G	NP_001340694.1:p.Met98Arg